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Publication

DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract.

Alexandria T M Blackburn | Nasim Bekheirnia | Vanessa C Uma | Mark E Corkins | Yuxiao Xu | Jill A Rosenfeld | Matthew N Bainbridge | Yaping Yang | Pengfei Liu | Suneeta Madan-Khetarpal | Mauricio R Delgado | Louanne Hudgins | Ian Krantz | David Rodriguez-Buritica | Patricia G Wheeler | Lihadh Al-Gazali | Aisha Mohamed Saeed Mohamed Al Shamsi | Natalia Gomez-Ospina | Hsiao-Tuan Chao | Ghayda M Mirzaa | Angela E Scheuerle | Mary K Kukolich | Fernando Scaglia | Christine Eng | Helen Rankin Willsey | Michael C Braun | Dolores J Lamb | Rachel K Miller | Mir Reza Bekheirnia
Genetics in medicine : official journal of the American College of Medical Genetics | 2019

Haploinsufficiency of DYRK1A causes a recognizable clinical syndrome. The goal of this paper is to investigate congenital anomalies of the kidney and urinary tract (CAKUT) and genital defects (GD) in patients with DYRK1A variants.

Pubmed ID: 31263215

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Associated grants

  • Agency: NIGMS NIH HHS, United States
    Id: R35 GM127069
  • Agency: NIDDK NIH HHS, United States
    Id: K01 DK092320
  • Agency: NIDDK NIH HHS, United States
    Id: R03 DK118771
  • Agency: NIMH NIH HHS, United States
    Id: U01 MH115747
  • Agency: NIDDK NIH HHS, United States
    Id: R01 DK115655
  • Agency: NIDDK NIH HHS, United States
    Id: DK0083014
  • Agency: NIMH NIH HHS, United States
    Id: R21 MH112158
  • Agency: NIDDK NIH HHS, United States
    Id: R01 DK078121
  • Agency: NIDDK NIH HHS, United States
    Id: K12 DK083014
  • Agency: NINDS NIH HHS, United States
    Id: K08 NS092898

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